MCID: CRB158
MIFTS: 18

Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome

Categories: Neuronal diseases, Mental diseases

Aliases & Classifications for Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome

MalaCards integrated aliases for Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome:

Name: Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome 12 14
Camrq 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0050997

Summaries for Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome

Disease Ontology : 12 An autosomal recessive cerebellar ataxia that is characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia.

MalaCards based summary : Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome, also known as camrq, is related to cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 and cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2. An important gene associated with Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome is WDR81 (WD Repeat Domain 81), and among its related pathways/superpathways are Cardiac conduction and Ion channel transport. Related phenotypes are growth/size/body region and pigmentation

Related Diseases for Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome

Graphical network of the top 20 diseases related to Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome:



Diseases related to Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome

Symptoms & Phenotypes for Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome

MGI Mouse Phenotypes related to Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.63 VLDLR WDR81 ATP8A1 ATP8A2 CA8 EHD1
2 pigmentation MP:0001186 9.13 ATP11A ATP8A2 VLDLR
3 vision/eye MP:0005391 9.02 ATP11A ATP8A2 EHD1 VLDLR WDR81

Drugs & Therapeutics for Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome

Search Clinical Trials , NIH Clinical Center for Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome

Genetic Tests for Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome

Anatomical Context for Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome

Publications for Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome

Variations for Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome

Expression for Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome

Search GEO for disease gene expression data for Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome.

Pathways for Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome

GO Terms for Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome

Cellular components related to Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 endosome GO:0005768 9.33 ATP11A ATP8A2 EHD1
2 early endosome membrane GO:0031901 8.96 EHD1
3 specific granule membrane GO:0035579 8.96 ATP11A ATP8A1
4 lysosomal membrane GO:0005765 8.62 ATP11A VLDLR

Biological processes related to Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.72 ATP11A ATP8A1 ATP8A2 EHD1 VLDLR
2 neuron projection development GO:0031175 9.37 ATP8A2 EHD1
3 phospholipid transport GO:0015914 9.33 ATP11A ATP8A1 ATP8A2
4 positive regulation of phospholipid translocation GO:0061092 9.26 ATP8A1 ATP8A2
5 phospholipid translocation GO:0045332 9.13 ATP11A ATP8A1 ATP8A2
6 lipid transport GO:0006869 8.92 ATP11A ATP8A1 ATP8A2 VLDLR

Molecular functions related to Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.46 ATP11A ATP8A1 ATP8A2 EHD1
2 magnesium ion binding GO:0000287 9.13 ATP11A ATP8A1 ATP8A2
3 phospholipid-translocating ATPase activity GO:0004012 8.8 ATP11A ATP8A1 ATP8A2

Sources for Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
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52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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